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255314001: Progressive (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380497019 Progressive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646336011 Progressive (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
138851000077114 progressif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive Is a Behaviour descriptors true Inferred relationship Some
Progressive Is a Chronic true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. Clinical course True Progressive Inferred relationship Some 6
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Clinical course False Progressive Inferred relationship Some 5
Osteochondrodysplasia with osteopetrosis Clinical course True Progressive Inferred relationship Some 4
Osteopetrosis - intermediate type Clinical course True Progressive Inferred relationship Some 3
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. Clinical course True Progressive Inferred relationship Some 2
Osteopetrosis with renal tubular acidosis Clinical course True Progressive Inferred relationship Some 3
Atelosteogenesis/diastrophic dysplasia Clinical course False Progressive Inferred relationship Some 4
Scapuloperoneal muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Clinical course True Progressive Inferred relationship Some 1
A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Clinical course True Progressive Inferred relationship Some 2
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. Clinical course True Progressive Inferred relationship Some 2
A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported. Clinical course True Progressive Inferred relationship Some 2
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Clinical course True Progressive Inferred relationship Some 2
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Clinical course True Progressive Inferred relationship Some 3
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Clinical course True Progressive Inferred relationship Some 3
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Clinical course True Progressive Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others. Clinical course True Progressive Inferred relationship Some 3
Early onset myopathy with fatal cardiomyopathy (disorder) Clinical course True Progressive Inferred relationship Some 2
Madelung's deformity (disorder) Clinical course False Progressive Inferred relationship Some 4
Hereditary progressive muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Clinical course True Progressive Inferred relationship Some 3
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. Clinical course True Progressive Inferred relationship Some 3
Craniometadiaphyseal dysplasia Clinical course True Progressive Inferred relationship Some 2
Facioscapulohumeral muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin. Clinical course True Progressive Inferred relationship Some 2
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. Clinical course True Progressive Inferred relationship Some 3
Osteomesopycnosis Clinical course False Progressive Inferred relationship Some 2
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Clinical course True Progressive Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Clinical course False Progressive Inferred relationship Some 2
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. Clinical course False Progressive Inferred relationship Some 2
Juvenile onset Huntington's disease (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Clinical course True Progressive Inferred relationship Some 3
Benign autosomal dominant osteopetrosis Clinical course False Progressive Inferred relationship Some 3
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation. Clinical course True Progressive Inferred relationship Some 2
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Clinical course False Progressive Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Clinical course False Progressive Inferred relationship Some 2
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Clinical course False Progressive Inferred relationship Some 4
Manifesting female carrier of X-linked muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Osteopetrosis Clinical course True Progressive Inferred relationship Some 3
Hereditary myopathy limited to females Clinical course True Progressive Inferred relationship Some 2
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. Clinical course True Progressive Inferred relationship Some 1
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. Clinical course True Progressive Inferred relationship Some 3
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. Clinical course True Progressive Inferred relationship Some 3
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. Clinical course True Progressive Inferred relationship Some 1
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. Clinical course True Progressive Inferred relationship Some 3
Reunion-Indiana Amish type muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. Clinical course True Progressive Inferred relationship Some 3
Ullrich congenital muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Autosomal dominant limb-girdle muscular dystrophy type 1H Clinical course True Progressive Inferred relationship Some 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Clinical course True Progressive Inferred relationship Some 3
Multiple epiphyseal dysplasia Clinical course True Progressive Inferred relationship Some 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Clinical course True Progressive Inferred relationship Some 3
Autosomal dominant muscular dystrophy with gene located at 5q31 Clinical course True Progressive Inferred relationship Some 2
A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. Clinical course True Progressive Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution Clinical course True Progressive Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Clinical course True Progressive Inferred relationship Some 2
X-linked muscular dystrophy with abnormal dystrophin Clinical course True Progressive Inferred relationship Some 2
Intermediate X-linked muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Larsen syndrome Clinical course True Progressive Inferred relationship Some 5
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Clinical course True Progressive Inferred relationship Some 3
X-linked limb girdle muscular dystrophy with normal dystrophin Clinical course True Progressive Inferred relationship Some 2
Ji muscular dystrophy Clinical course False Progressive Inferred relationship Some 2
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Clinical course True Progressive Inferred relationship Some 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Clinical course True Progressive Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Clinical course False Progressive Inferred relationship Some 3
Autosomal recessive muscular dystrophy with gene located at 15q Clinical course False Progressive Inferred relationship Some 1
Langer mesomelic dysplasia syndrome Clinical course True Progressive Inferred relationship Some 2
Autosomal dominant muscular dystrophy not predominantly limb girdle Clinical course True Progressive Inferred relationship Some 2
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Clinical course True Progressive Inferred relationship Some 2
Western type of congenital muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
dystrophie musculaire des ceintures autosomique dominante type 1C Clinical course False Progressive Inferred relationship Some 2
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple Clinical course True Progressive Inferred relationship Some 2
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. Clinical course True Progressive Inferred relationship Some 2
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. Clinical course True Progressive Inferred relationship Some 2
Eichsfeld type congenital muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. Clinical course True Progressive Inferred relationship Some 2
Hutterite type of muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Clinical course True Progressive Inferred relationship Some 3
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. Clinical course True Progressive Inferred relationship Some 2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) Clinical course True Progressive Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. Clinical course True Progressive Inferred relationship Some 4
Congenital muscular hypertrophy-cerebral syndrome Clinical course True Progressive Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Clinical course True Progressive Inferred relationship Some 2
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Clinical course True Progressive Inferred relationship Some 2
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. Clinical course True Progressive Inferred relationship Some 3
Late onset proximal muscular dystrophy with dysarthria Clinical course True Progressive Inferred relationship Some 2
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. Clinical course True Progressive Inferred relationship Some 2
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Clinical course False Progressive Inferred relationship Some 2
Muscular dystrophy not predominantly limb girdle in distribution Clinical course True Progressive Inferred relationship Some 2
X-linked muscular dystrophy not predominantly limb girdle (disorder) Clinical course True Progressive Inferred relationship Some 2
Mesomelic dysplasia Clinical course False Progressive Inferred relationship Some 2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Clinical course False Progressive Inferred relationship Some 2
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Clinical course True Progressive Inferred relationship Some 5
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Clinical course True Progressive Inferred relationship Some 2
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. Clinical course True Progressive Inferred relationship Some 2
Late onset Huntington's disease Clinical course True Progressive Inferred relationship Some 2
Autosomal recessive muscular dystrophy not predominantly limb girdle Clinical course True Progressive Inferred relationship Some 2
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. Clinical course True Progressive Inferred relationship Some 2
Scapulohumeral muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Benign scapuloperoneal muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Some 2

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