Skeletal muscle atrophy, and Joint hypermobility

Diseases related with Skeletal muscle atrophy and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Joint hypermobility that can help you solving undiagnosed cases.


Top matches:

Low match MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT


Related symptoms:

  • Talipes equinovarus
  • Neonatal hypotonia
  • Facial palsy
  • Joint hyperflexibility
  • Generalized muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Low match NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD


Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Related symptoms:

  • Muscle weakness
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Low match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

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Other less relevant matches:

Low match CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE


Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

Low match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Low match OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Joint hypermobility

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the foot Joint hyperflexibility Growth delay Motor delay Muscular hypotonia Myopathy Elevated serum creatine phosphokinase Muscular dystrophy Cachexia Hyperextensible skin Congenital muscular dystrophy Generalized amyotrophy Scarring Short stature Proximal muscle weakness Joint laxity Kyphoscoliosis Hernia Pain Global developmental delay Spinal rigidity Generalized muscle weakness Facial palsy Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Increased variability in muscle fiber diameter Adducted thumb Sensory neuropathy Sensory impairment Torticollis Protruding ear Difficulty climbing stairs Hip dislocation Respiratory failure Kyphosis Umbilical hernia Proximal amyotrophy Delayed gross motor development Slender finger Unsteady gait Follicular hyperkeratosis Nystagmus Blue sclerae Decreased body weight Cerebellar atrophy Neonatal hypotonia Single transverse palmar crease Hyperreflexia Ataxia Arachnodactyly Axial muscle weakness Seizures Intellectual disability Hyperextensibility at wrists Increased laxity of fingers Increased susceptibility to fractures Type 1 muscle fiber predominance Pes planus Soft skin Peripheral axonal neuropathy Distal muscle weakness Pes cavus Feeding difficulties Atrophic scars Gait disturbance Respiratory insufficiency Areflexia Distal amyotrophy Distal sensory impairment Arrhythmia Abnormality of the skeletal system Narrow chest Limb muscle weakness High palate Feeding difficulties in infancy Hyperkeratosis Decreased fetal movement Bruising susceptibility EMG abnormality Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Poor head control Failure to thrive Hypotelorism Sensorineural hearing impairment Cutis laxa Easy fatigability Poor suck Sloping forehead Epicanthus Inguinal hernia Waddling gait Myopia Cardiomyopathy Microcornea Osteopenia Rectal prolapse Patent ductus arteriosus Premature arteriosclerosis Ankle contracture Hearing impairment Congenital hip dislocation Quadricuspid aortic valve Hyperhidrosis Rigidity Joint stiffness Camptodactyly of finger Round face Growth hormone deficiency Pachygyria Ambiguous genitalia, female Congenital adrenal hyperplasia Cleft soft palate Arteriosclerosis Increased laxity of ankles Lissencephaly Abnormality of mitochondrial metabolism Limb-girdle muscular dystrophy Multiple joint contractures Mildly elevated creatine phosphokinase Progressive proximal muscle weakness Recurrent lower respiratory tract infections Slender build Muscle fiber necrosis Nocturnal hypoventilation Impaired mastication Disproportionate tall stature Ophthalmoplegia Bladder diverticulum Infantile muscular hypotonia Neuronal loss in central nervous system Generalized-onset seizure Intellectual disability, profound Open mouth Involuntary movements Postnatal microcephaly Stereotypy Clonus Truncal ataxia Narrow face Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Drooling Mutism Urinary incontinence Hyperkinesis Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Bowel incontinence Dysphasia Long nose Atrophy/Degeneration affecting the brainstem Dyslexia Abnormality of the nose Happy demeanor Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Epileptic encephalopathy Sleep disturbance Keloids Encephalopathy High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Microcephaly Strabismus Delayed speech and language development Dysphagia Ventriculomegaly Intellectual disability, severe Dystonia Intellectual disability, mild Absent speech Pectus excavatum Cerebral cortical atrophy Thick eyebrow Gait ataxia Autism Mandibular prognathia Gastroesophageal reflux Macrotia Deeply set eye Abnormality of the eye Developmental regression Severe global developmental delay Arthrogryposis multiplex congenita Muscle fiber splitting Abnormality of eye movement Poor speech Long face Poor wound healing Recurrent fractures Increased connective tissue Abnormal pyramidal sign Long toe Pes valgus Diaphragmatic weakness Abnormality of muscle fibers Increased endomysial connective tissue Spasticity Dysarthria Macrocephaly Babinski sign High forehead Difficulty walking Spastic paraplegia Abnormal palate morphology Genu valgum Paraplegia Falls Polyneuropathy Abnormal cerebellum morphology Abnormality of the hair Fasciculations Sensorimotor neuropathy Paraparesis Spastic paraparesis CNS hypomyelination Abnormality of the hand EMG: myopathic abnormalities Knee flexion contracture Sensory axonal neuropathy Constrictive median neuropathy Difficulty running Knee dislocation Distal upper limb muscle weakness Recurrent patellar dislocation Intrinsic hand muscle atrophy Hyporeflexia of upper limbs Hyporeflexia Macular degeneration Decreased nerve conduction velocity Drusen Demyelinating peripheral neuropathy Choroidal neovascularization Elbow flexion contracture Decreased patellar reflex Congestive heart failure Hyperlordosis Talipes Limitation of joint mobility Myocardial infarction Neck muscle weakness Limb-girdle muscle weakness Micrognathia Short neck Esotropia Frequent falls Steppage gait Brisk reflexes Precocious atherosclerosis Vesicoureteral reflux Vertebral compression fractures Enuresis Dentinogenesis imperfecta Enuresis nocturna Angulated humerus Fatigue Arthralgia Myalgia Arthritis Stroke Bifid uvula Gastrointestinal hemorrhage Dislocated radial head Mitral valve prolapse Ambiguous genitalia Thin skin Spina bifida Spina bifida occulta Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Adrenal hypoplasia Hiatus hernia Adrenal hyperplasia Bicornuate uterus Osteomalacia Long palpebral fissure Amyotrophic lateral sclerosis Curly eyelashes Decreased number of peripheral myelinated nerve fibers Curly hair Axonal loss Facial diplegia Motor axonal neuropathy Bulbar signs Woolly hair Areflexia of lower limbs Morphological abnormality of the pyramidal tract Hyporeflexia of lower limbs Red hair Abnormal hand morphology Abnormality of the pituitary gland Wormian bones Pili canaliculi Abnormality of the Achilles tendon Diffuse axonal swelling Long philtrum Osteoporosis Pectus carinatum Broad forehead Platyspondyly Thin vermilion border Triangular face Long eyelashes Increased bone mineral density Loss of ability to walk in first decade



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