Sensorineural hearing impairment, and Distal muscle weakness

Diseases related with Sensorineural hearing impairment and Distal muscle weakness

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Distal muscle weakness that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6


X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6 Is also known as cmt6x|cmtx6|charcot-marie-tooth neuropathy, x-linked dominant, 6

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 6

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A


Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A Is also known as spinal muscular atrophy, distal, with vocal cord paralysis|neuropathy, distal hereditary motor, type viia|hmn viia|dhmn7a|harper-young myopathy|dhmnvp

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A

Low match CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS


CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Is also known as charcot-marie-tooth disease, demyelinating, type 1e|cmt1e|charcot-marie-tooth neuropathy and deafness, autosomal dominant

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

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Other less relevant matches:

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


Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N Is also known as cmt2n|charcot-marie-tooth disease, axonal, autosomal dominant, type 2n|charcot-marie-tooth neuropathy, axonal, type 2n

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Areflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2N

Low match SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

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


Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4D


Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4D Is also known as hmsnl|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d|hmsn, lom type|neuropathy, hereditary motor and sensory, lom type|hmsn-lom|hereditary motor and sensory neuropathy, lom type|cmt4d|hmsn4d|charcot-marie-tooth neuropathy, type 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4D

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2


Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2|cmt4b2|charcot-marie-tooth neuropathy, type 4b2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


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.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Distal muscle weakness

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Areflexia Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Distal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Distal sensory impairment

Common Symptoms - More than 50% cases


Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases


Hammertoe

Common Symptoms - More than 50% cases


Distal amyotrophy

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the foot Tremor Decreased motor nerve conduction velocity Foot dorsiflexor weakness Limb muscle weakness Split hand Sensory neuropathy Steppage gait Kyphoscoliosis Axonal loss Decreased nerve conduction velocity Peripheral demyelination Gait disturbance Difficulty walking Sensory impairment Onion bulb formation

Rare Symptoms - Less than 30% cases


Sensorimotor neuropathy Vocal cord paresis Segmental peripheral demyelination/remyelination Lower limb muscle weakness Ataxia Sensory axonal neuropathy Glaucoma Talipes equinovarus Hoarse voice Proximal muscle weakness Talipes Unsteady gait CNS hypomyelination Distal lower limb amyotrophy Abnormality of the hand Mild proteinuria Focal segmental glomerulosclerosis Distal upper limb amyotrophy Motor delay Abnormality of visual evoked potentials Megalocornea Abnormal auditory evoked potentials Abnormal cranial nerve morphology Mildly elevated creatine phosphokinase Myopathy Dysphagia Myelin outfoldings Ulnar claw Buphthalmos Increased intraocular pressure Glomerulonephritis Vitamin E deficiency Decreased number of peripheral myelinated nerve fibers Congenital glaucoma Visual loss Visual impairment Pain Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Talipes cavus equinovarus Nephritis Demyelinating peripheral neuropathy Glomerulosclerosis Talipes calcaneovalgus Nystagmus Weakness of the intrinsic hand muscles Difficulty standing Absent Achilles reflex Abnormal cerebellum morphology Peripheral axonal neuropathy Vocal cord paralysis Acidosis Spinal muscular atrophy Paralysis Hand muscle weakness Distal lower limb muscle weakness Hand tremor Polyneuropathy Dystonia Lactic acidosis Frequent falls Sleep disturbance Falls Stage 5 chronic kidney disease Proteinuria Fever Motor axonal neuropathy Impaired pain sensation Elevated serum creatine phosphokinase Increased serum lactate Kyphosis Cognitive impairment Scoliosis Global developmental delay Intellectual disability Easy fatigability Horizontal nystagmus Progressive peripheral neuropathy



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