Skeletal muscle atrophy, and Paresthesia

Low match YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

• Generalized hypotonia
• Muscle weakness
• Peripheral neuropathy
• Skeletal muscle atrophy
• Gait disturbance

SOURCES: ORPHANET OMIM MENDELIAN

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

• Muscle weakness
• Pain
• Peripheral neuropathy
• Hyperreflexia
• Skeletal muscle atrophy

SOURCES: OMIM MENDELIAN

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

• Hearing impairment
• Pain
• Peripheral neuropathy
• Talipes equinovarus
• Areflexia

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

• Intellectual disability
• Generalized hypotonia
• Muscle weakness
• Motor delay
• Peripheral neuropathy

SOURCES: OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

• Ataxia
• Muscle weakness
• Cataract
• Peripheral neuropathy
• Gait disturbance

SOURCES: ORPHANET OMIM MENDELIAN

Low match NEURALGIC AMYOTROPHY

Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

• Short stature
• Muscle weakness
• Cleft palate
• Pain
• Peripheral neuropathy

SOURCES: ORPHANET MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

• Muscle weakness
• Pain
• Gait disturbance
• Myopathy
• Areflexia

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

• Hearing impairment
• Scoliosis
• Muscle weakness
• Pain
• Peripheral neuropathy

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y

Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

• Muscle weakness
• Peripheral neuropathy
• Dysarthria
• Skeletal muscle atrophy
• Behavioral abnormality

SOURCES: ORPHANET OMIM MENDELIAN

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

• Intellectual disability
• Global developmental delay
• Ataxia
• Muscle weakness
• Spasticity

SOURCES: ORPHANET OMIM MENDELIAN