Muscle weakness, and Peripheral neuropathy

• Peripheral neuropathy
• Fever
• Skeletal muscle atrophy
• Lower limb muscle weakness

SOURCES: OMIM MESH MENDELIAN

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

• Global developmental delay
• Short stature
• Muscle weakness
• Peripheral neuropathy
• Areflexia

SOURCES: ORPHANET OMIM MENDELIAN

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

• Motor delay
• Skeletal muscle atrophy
• Gait disturbance
• Arrhythmia
• Proximal muscle weakness

SOURCES: ORPHANET MENDELIAN

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with 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, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as charcot-marie-tooth neuropathy, dominant intermediate c|di-cmtc|cmtdic

• Muscle weakness
• Skeletal muscle atrophy
• Distal muscle weakness
• Abnormality of the foot
• Distal amyotrophy

SOURCES: MESH OMIM ORPHANET MENDELIAN

• Facial palsy
• Interstitial pulmonary abnormality

SOURCES: OMIM MENDELIAN

Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD Is also known as charcot-marie-tooth neuropathy, type 2dd|cmt2dd|atp1a1-related autosomal dominant charcot-marie-tooth disease type 2|atp1a1-related cmt2

• Muscle weakness
• Peripheral neuropathy
• Pes cavus
• Distal muscle weakness
• Peripheral axonal neuropathy

SOURCES: ORPHANET OMIM MENDELIAN

HMN9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; HMN9 Is also known as dhmn9|neuropathy, distal hereditary motor, type ix

• Muscle weakness
• Peripheral neuropathy
• Areflexia
• Paralysis
• Distal muscle weakness

SOURCES: OMIM MENDELIAN

Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q Is also known as charcot-marie-tooth neuropathy, type 2q|cmt2q|charcot-marie-tooth disease, axonal, autosomal dominant, type 2q

• Skeletal muscle atrophy
• Pes cavus
• Difficulty walking
• Lower limb muscle weakness
• Sensory impairment

SOURCES: OMIM ORPHANET MENDELIAN

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.

X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS Is also known as x-linked hsan with deafness|x-linked auditory neuropathy with peripheral sensory neuropathy type 1|auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy|aunx1

• Hearing impairment
• Muscle weakness
• Peripheral neuropathy
• Areflexia
• Unsteady gait

SOURCES: ORPHANET OMIM MESH MENDELIAN

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as di-cmtd|cmtdid|charcot-marie-tooth neuropathy, dominant intermediate d

• Skeletal muscle atrophy
• Areflexia
• Hyporeflexia
• Distal muscle weakness
• Distal amyotrophy

SOURCES: ORPHANET OMIM MENDELIAN